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ZNF469 zinc finger protein 469 [ Homo sapiens (human) ]

Gene ID: 84627, updated on 11-Jun-2021

Summary

Official Symbol
ZNF469provided by HGNC
Official Full Name
zinc finger protein 469provided by HGNC
Primary source
HGNC:HGNC:23216
See related
Ensembl:ENSG00000225614 MIM:612078
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCS; BCS1; Zfp469
Summary
This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 1.0), endometrium (RPKM 0.8) and 24 other tissues See more
Orthologs
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Genomic context

See ZNF469 in Genome Data Viewer
Location:
16q24.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (88382959..88440753)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88449367..88507161)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14328 Neighboring gene Sharpr-MPRA regulatory region 4027 Neighboring gene uncharacterized LOC112268182 Neighboring gene Sharpr-MPRA regulatory region 3966 Neighboring gene zinc finger protein, FOG family member 1 Neighboring gene microRNA 5189

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Brittle cornea syndrome 1
MedGen: C0268344 OMIM: 229200 GeneReviews: Not available
Compare labs
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
GeneReviews: Not available
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
GeneReviews: Not available
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1858

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012236.2 RefSeqGene

    Range
    5001..18283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367624.2NP_001354553.1  zinc finger protein 469

    Status: REVIEWED

    Source sequence(s)
    AC132804, AC135049, KF456226
    Related
    ENSP00000456500.2, ENST00000565624.3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    88382959..88440753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023784.1XP_016879273.1  zinc finger protein 469 isoform X1

    UniProtKB/TrEMBL
    H3BS19
    Conserved Domains (2) summary
    sd00017
    Location:33393359
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:33393359
    zf-C2H2; Zinc finger, C2H2 type

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127464.2: Suppressed sequence

    Description
    NM_001127464.2: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
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